Canonical Allele Identifier: CA2575215532
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65246419-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246419T>C , CM000674.2:g.65246419T>C GRCh38
NC_000012.11:g.65640199T>C , CM000674.1:g.65640199T>C GRCh37
NC_000012.10:g.63926466T>C NCBI36
NG_016210.1:g.81849T>C
NG_016210.2:g.81849T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.*94T>C MANE Select ENSP00000308369.2:n.*94T>C
ENST00000308330.2:c.*94T>C ENSP00000308369.2:n.*94T>C
ENST00000539442.1:n.812T>C
NM_001167614.1:c.*94T>C NP_001161086.1:n.*94T>C
NM_014319.4:c.*94T>C NP_055134.2:n.*94T>C
NM_014319.5:c.*94T>C MANE Select NP_055134.2:n.*94T>C
NM_001167614.2:c.*94T>C NP_001161086.1:n.*94T>C
Search 100 bp 5'
Search 100 bp 3'